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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

KCNB1 Gene

protein-coding   GIFtS: 61
GCID: GC20M047984

potassium voltage-gated channel, Shab-related subfamily,...
 Explore 13 diseases affiliated with
KCNB1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for KCNB1    

Aliases
for KCNB1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Potassium Voltage-Gated Channel, Shab-Related Subfamily, Member 11 2     KV2.12
Delayed Rectifier Potassium Channel 12 3     Delayed Rectifier Potassium Channel Kv2.12
Voltage-Gated Potassium Channel Subunit Kv2.12 3     H-DRK1 K(+) Channel2
DRK12 3     Potassium Channel Protein DRK12
H-DRK11     Potassium Voltage-Gated Channel Subfamily B Member 12
Kv2.11     

External Ids:    HGNC: 62311   Entrez Gene: 37452   Ensembl: ENSG000001584457   OMIM: 6003975   UniProtKB: Q147213   

Export aliases for KCNB1 gene to outside databases

Previous GC identifers: GC20M047717 GC20M048626 GC20M048673 GC20M047421 GC20M044737


Summaries
for KCNB1 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for KCNB1:
Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both
functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart
rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell
volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in
Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel,
voltage-gated, shab-related subfamily. This member is a delayed rectifier potassium channel and its activity is
modulated by some other family members. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: KCNB1_HUMAN, Q14721
Function: Mediates the voltage-dependent potassium ion permeability of excitable membranes. Channels open or close in
response to the voltage difference across the membrane, letting potassium ions pass in accordance with their
electrochemical gradient

summary for KCNB1:
Voltage-gated potassium channels (KV) belong to the 6-TM family of potassium channel that also comprises the
Ca2+-activated Slo (actually 7-TM) and the Ca2+-activated SK subfamilies. The pore-forming alpha-subunits
contain a single pore-forming region and combine to form tetramers. Heteromeric channels can be formed
within subfamilies e.g. KV1.1 with KV1.2 and KCNQ2 with KCNQ3.

Gene Wiki entry for KCNB1


Genomic Views
for KCNB1 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000020.10  NC_018931.1  NT_011362.10  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the KCNB1 gene promoter:
         Max1   NF-1   Spz1   NRSF form 1   LCR-F1   NRSF form 2   Ik-2   Chx10   Pax-4a   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: KCNB1 promoter sequence
   Search SABiosciences Chromatin IP Primers for KCNB1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KCNB1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 20q13.2   Ensembl cytogenetic band:  20q13.13   HGNC cytogenetic band: 20q13.2

KCNB1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KCNB1 gene location

GeneLoc information about chromosome 20         GeneLoc Exon Structure

GeneLoc location for GC20M047984:  view genomic region     (about GC identifiers)

Start:
 47,984,946 bp from pter      End:
 48,099,184 bp from pter
Size:
 114,239 bases      Orientation:
 minus strand

Proteins
for KCNB1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: KCNB1_HUMAN, Q14721 (See protein sequence)
Recommended Name: Potassium voltage-gated channel subfamily B member 1  
Size: 858 amino acids; 95878 Da
Subunit: Heteromultimer with KCNG2, KCNG3, KCNG4, KCNS1, KCNS2, KCNS3 and KCNV2 (By similarity)
Subcellular location: Membrane; Multi-pass membrane protein
Sequence caution: Sequence=AAA36156.1; Type=Erroneous initiation;
Secondary accessions: Q14193

Explore the universe of human proteins at neXtProt for KCNB1: NX_Q14721

Post-translational modifications:

  • Highly phosphorylated on serine residues in the C-terminal. Differential phosphorylation on a subset of serines allows
    • graded activity-dependent regulation of channel gating. Phosphorylation on Ser-457, Ser-541, Ser-567, Ser-607, Ser-656
    and Ser-720 as well as the N-terminal Ser-15 are all regulated by calcineurin-mediated dephosphorylation.
    Particularly, Ser-607 and Tyr-128 are significant sites of voltage-gated regulation through phosphorylation/
    dephosphorylation activities. Tyr-128 can be dephosphorylated by PTPalpha and cyt-PTPepsilon. Phosphorylation levels
    on Ser-607 are supersensitive to neuronal activity. Phosphorylation on Ser-567 is reduced during postnatal development
    with low levels at P2 and P5. Levels then increase to reach adult levels by P14. Phosphorylation levels on Ser-564 and
    Ser-607 are greatly reduced during seizures, by 40% and 85% respectively (By similarity)1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q14721

    • KCNB1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_004966.1  
    ENSEMBL proteins: 
     ENSP00000360806  
    Reactome Protein details: Q14721
    Human Recombinant Protein Products: 
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    Uscn Proteins for KCNB1

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0008076voltage-gated potassium channel complex IEA--
    GO:0030425dendrite IEA--
    GO:0032590dendrite membrane IEA--
    GO:0032809neuronal cell body membrane IEA--


    KCNB1 for ontologies           About GeneDecksing



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    Protein Domains /
    Families
    for KCNB1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    KCNB1 for domains           About GeneDecksing

    5/8 InterPro domains/families (see all 8):
     IPR005821 Ion_trans_dom
     IPR000210 BTB/POZ-like
     IPR011333 BTB/POZ_fold
     IPR003973 K_chnl_volt-dep_Kv2
     IPR003968 K_chnl_volt-dep_Kv

    Graphical View of Domain Structure for InterPro Entry Q14721

    ProtoNet protein and cluster: Q14721

    3 Blocks protein families:
    IPB000210 BTB/POZ domain
    IPB003091 Potassium channel signature
    IPB004350 Kv2.1 voltage-gated K+ channel signature


    UniProtKB/Swiss-Prot: KCNB1_HUMAN, Q14721
    Domain: The segment S4 is probably the voltage-sensor and is characterized by a series of positively charged amino
    acids at every third position
    Domain: The tail may be important in modulation of channel activity and/or targeting of the channel to specific
    subcellular compartments
    Similarity: Belongs to the potassium channel family. B (Shab) (TC 1.A.1.2) subfamily. Kv2.1/KCNB1 sub-subfamily


    Function
    for KCNB1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: KCNB1_HUMAN, Q14721
    Function: Mediates the voltage-dependent potassium ion permeability of excitable membranes. Channels open or close in
    response to the voltage difference across the membrane, letting potassium ions pass in accordance with their
    electrochemical gradient

         Genatlas biochemistry entry for KCNB1:
    potassium voltage-gated channel,Drosophila Shab-related subfamily

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    hsa-miR-448 hsa-miR-548s hsa-miR-507 hsa-miR-652 hsa-miR-373* hsa-miR-298 hsa-miR-891b hsa-miR-514b-3p
    SwitchGear 3'UTR luciferase reporter plasmid: KCNB1 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    In Situ Assay
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    Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005249voltage-gated potassium channel activity ----
    GO:0005251delayed rectifier potassium channel activity IBA--
    GO:0005515protein binding IPI10484328
    GO:0015271outward rectifier potassium channel activity IEA--
    GO:0047485protein N-terminus binding IEA--


    KCNB1 for ontologies           About GeneDecksing


    Animal Models:
         2 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Kcnb1):
     endocrine/exocrine gland  homeostasis/metabolism 

    KCNB1 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for KCNB1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/8 super-pathways (see all 8) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Potassium Channels
    		Potassium Channels1.00
    		Potassium transporters: outward current0.42
    		Voltage gated Potassium channels0.43
    2Regulation of Insulin Secretion
    		Regulation of Insulin Secretion1.00
    		Regulation of Insulin Secretion by Glucagon-like Peptide-10.55
    		Integration of energy metabolism0.74
    3Closing of Potassium voltage-gated channels by PKA
    		Closing of Potassium voltage-gated channels by PKA1.00
    4Metabolism
    		Metabolism1.00
    5Dopamine-DARPP32 Feedback onto cAMP Pathway
    		Dopamine-DARPP32 Feedback onto cAMP Pathway1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    1 EMD Millipore Pathway for KCNB1
        Potassium transporters- outward current

    1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for KCNB1
        Dopamine-DARPP32 Feedback onto cAMP Pathway

    1 BioSystems Pathway for KCNB1 
        Calcium Regulation in the Cardiac Cell

    5/8        Reactome Pathways for KCNB1 (see all 8)
        Potassium Channels
    Regulation of Insulin Secretion by Glucagon-like Peptide-1
    Closing of Potassium voltage-gated channels by PKA
    Metabolism
    Regulation of Insulin Secretion


    1         Kegg Pathway  (Kegg details for KCNB1):
        Taste transduction


    KCNB1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for KCNB1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/56 Interacting proteins for KCNB1 (Q147213 ENSP000003608064) via UniProtKB, MINT, STRING, and/or I2D (see all 56)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    KCNS3Q9BQ313, ENSP000003058244I2D: score=2 STRING: ENSP00000305824
    PTPREP234693, ENSP000002546674I2D: score=2 STRING: ENSP00000254667
    KCNG1Q9UIX43, ENSP000003606264I2D: score=1 STRING: ENSP00000360626
    KCNH1O952593, ENSP000002717514I2D: score=1 STRING: ENSP00000271751
    KCNV1Q6PIU13, ENSP000002974044I2D: score=1 STRING: ENSP00000297404
    About this table

    Gene Ontology (GO): 5 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006112energy reserve metabolic process TAS--
    GO:0007268synaptic transmission TAS--
    GO:0044281small molecule metabolic process TAS--
    GO:0050796regulation of insulin secretion TAS--
    GO:0051260protein homooligomerization IEA--


    KCNB1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for KCNB1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    KCNB1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Compounds for KCNB1 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    Chromanol 293BIKs blocker. Also blocks ICFTR[163163-23-3]
    AM 92016 hydrochlorideKV channel blocker[178894-81-0]
    KN-93CaM kinase II inhibitor. Also K+ channel blocker (KV)[139298-40-1]
    (-)-[3R,4S]-Chromanol 293B IKs blocker. Enantiomer of Chromanol 293B (Cat. No. 1412)[163163-24-4]
    4-AminopyridineNon-selective KV channel blocker[504-24-5]
    4 Novoseek chemical compound relationships for KCNB1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    potassium 60.6 15 18716211 (2), 11429406 (1), 10980613 (1), 12586336 (1) (see all 11)
    4-aminopyridine 51.7 1 12242265 (1)
    tetraethylammonium 49 1 12642579 (1)
    calcium 6.49 1 15353504 (1)

    Search CenterWatch for drugs/clinical trials and news about KCNB1 

    Transcripts
    for KCNB1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for KCNB1 gene: 
    NM_004975.2  

    Unigene Cluster for KCNB1:

    Potassium voltage-gated channel, Shab-related subfamily, member 1
    Hs.84244  [show with all ESTs]
    Unigene Representative Sequence: L02840
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000371741(uc002xur.1 uc002xus.1)

    miRNA
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    hsa-miR-448 hsa-miR-548s hsa-miR-507 hsa-miR-652 hsa-miR-373* hsa-miR-298 hsa-miR-891b hsa-miR-514b-3p
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    Inhib. RNA
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    Additional cDNA sequence: 

    AF026005.1 BC127120.1 L02840.1 

    6 DOTS entries:

    DT.113446  DT.95362628  DT.97785231  DT.100742174  DT.101985667  DT.91776272 

    24/86 AceView cDNA sequences (see all 86):

    F01932 BM716727 AI627408 BM725609 AA069770 BM931848 AA584187 BM701250 
    F01875 BQ189370 BM703328 NM_004975 AI654891 BM678090 AA722102 BQ186746 
    AF026005 AA234923 BM675921 AI458502 BU729580 BX954191 BM711704 BU730308 

    GeneLoc Exon Structure


    Expression
    for KCNB1 gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    KCNB1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: AACTCAGAGC

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    KCNB1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    EyeOuter Nuclear LayerMature Rod CellsPhotoreceptors, Retina
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See KCNB1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for KCNB1

    SOURCE GeneReport for Unigene cluster: Hs.84244
        SABiosciences Expression via Pathway-Focused PCR Array including KCNB1: 
              Neuronal Ion Channels in human mouse rat

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    In Situ
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    Orthologs
    for KCNB1 gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of animals.

    Orthologs for KCNB1 gene from 5/22 species (see all 22)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves KCNB11 potassium voltage-gated channel, Shab-related subfamily, more 75.44(n)
    84.53(a)    		   428146  XM_425704.2  XP_425704.2 
    lizard
    (Anolis carolinensis)    		 Reptilia KCNB26
    		 --
    		 90(a)
    		 1 ↔ 1
    		 4(33356132-33357025)
    African clawed frog
    (Xenopus laevis)    		 Amphibia kcnb1-A2 potassium voltage-gated channel, Shab-related subfamily, more 74.94(n)    U20343.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii kcnb11 potassium voltage-gated channel, Shab-related subfamily, more 67.9(n)
    71.22(a)    		   555284  XM_677756.3  XP_682848.3 
    fruit fly
    (Drosophila melanogaster)    		 Insecta Shab3 potassium ion transport voltage-gated
    potassium more    		 69(a)     --


    ENSEMBL Gene Tree for KCNB1 (if available)
    TreeFam Gene Tree for KCNB1 (if available) 

    Paralogs
    for KCNB1 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for KCNB1 gene
    KCNG32  KCNF12  KCNB22  KCNV12  KCNG22  KCNS22  KCNS32  KCNV22  
    KCNG42  KCNG12  KCNS12  
    18/25 SIMAP similar genes for KCNB1 using alignment to 2 protein entries:     KCNB1_HUMAN (see all proteins) (see all similar genes):
    KCNV1    KCNG1    KCNB2    KCNF1    KCNS2    KCNS3
    KCNG2    KCNS1    KCNG4    KCNV2    KCNA1    KCNA3
    KCND2    KCNG3    KCNA10    KCNA4    KCNA2    KCNC2

    KCNB1 for paralogs           About GeneDecksing



    Genomic Variants
    for KCNB1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1962 NCBI SNPs in KCNB1 are shown (see all 1962)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 20 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1506518941,2
    		--47988203(+) TGTATA/GCTTGA 1 -- ds50010--------
    rs1870231771,2
    		--47988204(+) GTATAC/TTTGAC 1 -- ds50010--------
    rs1919230431,2
    		--47988320(+) GACAGC/TAATAC 1 -- ds50010--------
    rs622076391,2
    		--47988458(+) AACCTA/GTTTTT 1 -- ds50012Minor allele frequency- G:0.05NA 122
    rs33311,2
    		C,F,H,--47988601(+) TTCAAT/CGCGTG 1 -- ut3110Minor allele frequency- C:0.08MN NA NS EA CSA 646
    rs1180345121,2
    		C,F,--47988624(+) TTTCAT/CTTTTG 1 -- ut311Minor allele frequency- C:0.03EA 120
    rs1396908491,2
    		--47988629(+) TTTTTC/GCAAGT 1 -- ut310--------
    rs1158351881,2
    		C,F,--47988701(+) CTTTTG/ACATAT 1 -- ut311Minor allele frequency- A:0.02WA 118
    rs26645511,2
    		H--47988725(+) ATCTTT/GTGAGT 1 -- ut31 ese34Minor allele frequency- G:0.00NS EA 418
    rs1493584571,2
    		--47988814(+) GCCCAC/GCTTCT 1 -- ut310--------

    HapMap Linkage Disequilibrium report for KCNB1 (47984946 - 48099184 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for KCNB1: --

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    Disorders / Diseases
    for KCNB1 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    KCNB1 for disorders           About GeneDecksing

    OMIM gene information: 600397    OMIM disorders: --

    13 diseases for KCNB1:    About MalaCards
    patent ductus arteriosus    cutis laxa    arterial tortuosity syndrome    sporotrichosis
    cutaneous mycosis    neuronitis    brain ischemia    hepatitis c
    ischemia    seizures    hepatitis    hypoxia
    pancreatitis

    1 disease from the University of Copenhagen DISEASES database for KCNB1:
    Sporotrichosis
    Genetic Association Database (GAD): KCNB1
    Human Genome Epidemiology (HuGE) Navigator: KCNB1 (3 documents)

    Export disorders for KCNB1 gene to outside databases

    Publications
    for KCNB1 gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for KCNB1 gene, integrated from 9 sources (see all 69):
    (articles sorted by number of sources associating them with KCNB1)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. International Union of Pharmacology. LIII. Nomenclatu re and molecular relationships of voltage-gated potassium channels. (PubMed id 16382104)1, 3 Gutman G.A....Wang X. (2005)
    2. The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)1, 2 Deloukas P....Rogers J. (2001)
    3. Physical and genetic localization of a Shab subfamily potassium channel (KCNB1) gene to chromosomal region 20q13.2. (PubMed id 7774931)1, 3 Melis R....Leppert M. (1995)
    4. Cloning and characterization of a human delayed rectifier potassium channel gene. (PubMed id 8081723)1, 2 Albrecht B.... Pongs O. (1993)
    5. Identification of a Ser857-Asn857 substitution in DRK1 (KCNB1), population frequencies and lack of association to the low voltage alpha EEG trait. (PubMed id 8698327)4, 9 Mazzanti C.M....Goldman D. (1996)
    6. Synaptosome-associated protein of 25 kilodaltons modulates Kv2.1 voltage-dependent K(+) channels in neuroendocrine islet beta-cells through an interaction with the channel N terminus. (PubMed id 12403834)1, 9 MacDonald P.E....Gaisano H.Y. (2002)
    7. Oxygen-sensitive Kv channel gene transfer confers oxygen responsiveness to preterm rabbit and remodeled human ductus arteriosus: implications for infants with patent ductus arteriosus. (PubMed id 15353504)1, 9 Thebaud B....Archer S.L. (2004)
    8. Heterologous expression of the human potassium channel Kv2.1 in clonal mammalian cells by direct cytoplasmic microinjection of cRNA. (PubMed id 1283219)2, 9 Ikeda S.R.... Lewis D.L. (1992)
    9. The voltage-dependent potassium channel subunit Kv2.1 regulates insulin secretion from rodent and human islets independently of its el ectrical function. (PubMed id 22411134)1 Dai X.Q....Macdonald P.E. (2012)
    10. Toxic role of K+ channel oxidation in mammalian brain. (PubMed id 22442077)1 Cotella D....Sesti F. (2012)

    External Searches for KCNB1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  
      Query String
    		PubMed
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    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing KCNB1 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 3745 HGNC: 6231 AceView: KCNB1 Ensembl:ENSG00000158445 euGenes: HUgn3745
    ECgene: KCNB1 Kegg: 3745 H-InvDB: KCNB1

    Other Databases showing KCNB1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing KCNB1 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for KCNB1 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for KCNB1 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for KCNB1 gene:
    Search GeneIP for patents involving KCNB1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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